en شناسایی یک موتاسیون در ژن بی-آریل سولفاتاز در سه بیمار ایرانی مبتلا موکوپلی ساکاریدوز نوع شش Related Fields Related Fields مقاله کوتاه Short Communication <p>Background: Mucopolysaccharidosis type-VI (MPS-VI), which is inherited as an autosomal recessive trait, results from the deficiency of N-acetylgalactosamine 4-sulfatase (arylsulfatase B) activity and the lysosomal accumulation of dermatan sulfate. In this study, ARSB mutation analysis was performed on three unrelated patients who were originally from the West Azerbaijan province of Iran. Methods: After PCR and direct DNA sequencing, DNA extraction was performed. Results: Sequencing analysis revealed a novel homozygous missense mutation in the ARSB gene at c.1457A>G [p. D486V] in three unrelated Iranian MPS-VI patients with different phenotype severity. Conclusion: The mutation type in three patients was the same probably, because of a foundation effect on their population.</p> Mucopolysaccharidosis type-VI (MPS-VI), Mutation, Iran 171 169 http://ibj.pasteur.ac.ir/browse.php?a_code=A-10-1-363&slc_lang=en&sid=1 Nayerossadat Nouri نیره السادات نوری No Nargesossadat Nouri نرگس السادات نوری No Omid Aryani امید آریانی No Behnam Kamalidehghan بهنام کمالی دهقان No Massoud Houshmand مسعود هوشمند massoudh@nigeb.ac.ir Yes